Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.R1810P
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CHD7

NM_017780.4:p.R1810P

Associated Papers

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

Brooks BP et al.

American Journal of Ophthalmology, 2026

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT et al.

American Journal of Human Genetics, 2017

28475860 (PubMed )
Supplement: mmc1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."